| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.38556539A>G | CA16617946 | SCN5A | c.4336T>C (p.Tyr1446His) c.4339T>C (p.Tyr1447His) c.4285T>C (p.Tyr1429His) c.4177T>C (p.Tyr1393His) c.4210T>C (p.Tyr1404His) c.4282T>C (p.Tyr1428His) | ClinVar dbSNP |
| 3 | g.38556539A>T | CA352145441 | SCN5A | c.4336T>A (p.Tyr1446Asn) c.4339T>A (p.Tyr1447Asn) c.4285T>A (p.Tyr1429Asn) c.4177T>A (p.Tyr1393Asn) c.4210T>A (p.Tyr1404Asn) c.4282T>A (p.Tyr1428Asn) | dbSNP gnomAD v4 |
| 3 | g.38556539A= | CA1358563505 | SCN5A | c.4336T= (p.Tyr1446=) c.4339T= (p.Tyr1447=) c.4285T= (p.Tyr1429=) c.4177T= (p.Tyr1393=) c.4210T= (p.Tyr1404=) c.4282T= (p.Tyr1428=) | dbSNP |
| 3 | g.38556539A>C | CA352145440 | SCN5A | c.4336T>G (p.Tyr1446Asp) c.4339T>G (p.Tyr1447Asp) c.4285T>G (p.Tyr1429Asp) c.4177T>G (p.Tyr1393Asp) c.4210T>G (p.Tyr1404Asp) c.4282T>G (p.Tyr1428Asp) | dbSNP gnomAD v4 |